Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755799430
rs755799430
2 0.925 0.080 14 74259689 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs869025268
rs869025268
1 1.000 0.080 14 74239626 frameshift variant -/G delins 1.3E-05 0.700 1.000 1 2016 2016
dbSNP: rs121912543
rs121912543
4 0.851 0.080 14 74259621 missense variant G/A;C snv 0.010 1.000 1 2019 2019